Nature Reviews Nephrology最新文献

Kidney disease and reproductive health 肾病和生殖健康

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-11-05 DOI: 10.1038/s41581-024-00901-6

Priscilla A. Smith, Ippokratis Sarris, Katherine Clark, Kate Wiles, Kate Bramham

{"title":"Kidney disease and reproductive health","authors":"Priscilla A. Smith, Ippokratis Sarris, Katherine Clark, Kate Wiles, Kate Bramham","doi":"10.1038/s41581-024-00901-6","DOIUrl":"https://doi.org/10.1038/s41581-024-00901-6","url":null,"abstract":"Understanding the relationship between reproductive health and kidney function is important to provide holistic care for people living with kidney disease. Chronic kidney disease (CKD) has negative impacts on both male and female fertility owing to factors including inflammation, hormonal dysregulation, reduced ovarian reserve, reduced sperm quality and sexual dysfunction. However, pregnancy is achievable for most cisgender women with kidney disease, including kidney transplant recipients and patients on dialysis. CKD in pregnancy is associated with health risks to the mother and child, including increased risk of progression of kidney disease, hypertensive complications of pregnancy, and neonatal complications including fetal growth restriction, preterm birth and stillbirth. However, with appropriate pre-pregnancy counselling, fertility assessment and support, health optimization, and evidence-based antenatal care, the majority of patients will achieve a good outcome. Medication safety should be reviewed before and during pregnancy and lactation, weighing the risk of disease flare against potential adverse effects on the offspring. Important areas for further research include the optimal timing of delivery and the short- and long-term cardiovascular and renal impacts of pregnancy in patients with CKD, as well as long-term kidney and cardiovascular outcomes in their offspring.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":null,"pages":null},"PeriodicalIF":41.5,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142580703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

ECM remodelling by ADAMTS12 in fibrosis 纤维化过程中 ADAMTS12 对 ECM 的重塑作用

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-30 DOI: 10.1038/s41581-024-00905-2

Susan J. Allison

{"title":"ECM remodelling by ADAMTS12 in fibrosis","authors":"Susan J. Allison","doi":"10.1038/s41581-024-00905-2","DOIUrl":"https://doi.org/10.1038/s41581-024-00905-2","url":null,"abstract":"Fibrosis results from the continuous deposition of extracellular matrix (ECM) by fibroblasts in response to injurious stimuli; however, the exact roles of fibroblasts in this process are unclear. New findings demonstrate a key role for the protease ADAMTS12 in driving fibrosis through the remodelling of ECM and activation of profibrotic fibroblasts. “On the basis of these observations, we hypothesize that ADAMTS12 serves as an autocrine switch that controls the initiation of fibroblast activation, including [their] detachment and migration from the perivascular niche,” say the researchers.Using unbiased gene expression analyses, Konrad Hoeft, Lars Koch and colleagues observed upregulated expression of ADAMTS12 in fibroblasts after injury in mouse and human kidneys. Mice with deletion of Adamts12 were protected from kidney and cardiac fibrosis, characterized by the limited upregulation of ECM proteins and restricted expansion of profibrotic mesenchymal cells, indicating a regulatory role in the fibrotic process. In line with these findings, deletion of ADAMTS12 in immortalized PDGFRβ+ human mesenchymal kidney cells attenuated expression of the ECM component gene COL1A1 in response to TGFβ, associated with downregulation of JAK–STAT signalling and of pathways related to cell adhesion, cell migration and locomotion. Live cell imaging over a period of 24 h confirmed that the knockout cells exhibited a blunted migratory response to TGFβ, which was rescued by the expression of active ADAMTS12, along with upregulation of JAK–STAT signalling. Mechanistically, the researchers determined that active ADAMTS12 acts to cleave the fibulin HMCN1 — a component of basement membranes that tethers cells to membranes. Knockdown of HMCN1 in ADAMTS12-overexpressing cells inhibited their migration, which indicates that cleaved HMCN1 peptides (which are produced in the presence of activated ADAMTS12) promote mesenchymal cell migration, activation and perpetuation of fibrosis.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":null,"pages":null},"PeriodicalIF":41.5,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142541631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A guide to gene–disease relationships in nephrology 肾脏病学基因与疾病关系指南

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-23 DOI: 10.1038/s41581-024-00900-7

Zornitza Stark, Alicia B. Byrne, Matthew G. Sampson, Rachel Lennon, Andrew J. Mallett

{"title":"A guide to gene–disease relationships in nephrology","authors":"Zornitza Stark, Alicia B. Byrne, Matthew G. Sampson, Rachel Lennon, Andrew J. Mallett","doi":"10.1038/s41581-024-00900-7","DOIUrl":"https://doi.org/10.1038/s41581-024-00900-7","url":null,"abstract":"The use of next-generation sequencing technologies such as exome and genome sequencing in research and clinical care has transformed our understanding of the molecular architecture of genetic kidney diseases. Although the capability to identify and rigorously assess genetic variants and their relationship to disease has advanced considerably in the past decade, the curation of clinically relevant relationships between genes and specific phenotypes has received less attention, despite it underpinning accurate interpretation of genomic tests. Here, we discuss the need to accurately define gene–disease relationships in nephrology and provide a framework for appraising genetic and experimental evidence critically. We describe existing international programmes that provide expert curation of gene–disease relationships and discuss sources of discrepancy as well as efforts at harmonization. Further, we highlight the need for alignment of disease and phenotype terminology to ensure robust and reproducible curation of knowledge. These collective efforts to support evidence-based translation of genomic sequencing into practice across clinical, diagnostic and research settings are crucial for delivering the promise of precision medicine in nephrology, providing more patients with timely diagnoses, accurate prognostic information and access to targeted treatments.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":null,"pages":null},"PeriodicalIF":41.5,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142487836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance) 关于先天性肾源性尿崩症（精氨酸加压素抵抗）诊断和管理的国际专家共识声明

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-22 DOI: 10.1038/s41581-024-00897-z

Elena Levtchenko, Gema Ariceta, Olga Arguedas Flores, Daniel G. Bichet, Detlef Bockenhauer, Francesco Emma, Ewout J. Hoorn, Linda Koster-Kamphuis, Tom Nijenhuis, Francesco Trepiccione, Rosa Vargas-Poussou, Stephen B. Walsh, Nine V.A.M. Knoers

{"title":"International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance)","authors":"Elena Levtchenko, Gema Ariceta, Olga Arguedas Flores, Daniel G. Bichet, Detlef Bockenhauer, Francesco Emma, Ewout J. Hoorn, Linda Koster-Kamphuis, Tom Nijenhuis, Francesco Trepiccione, Rosa Vargas-Poussou, Stephen B. Walsh, Nine V.A.M. Knoers","doi":"10.1038/s41581-024-00897-z","DOIUrl":"https://doi.org/10.1038/s41581-024-00897-z","url":null,"abstract":"Congenital nephrogenic diabetes insipidus (NDI; also known as arginine vasopressin resistance) is a rare inherited disorder of water homeostasis, caused by insensitivity of the distal nephron to arginine vasopressin. Consequently, the kidney loses its ability to concentrate urine, which leads to polyuria, polydipsia and the risk of hypertonic dehydration. The diagnosis and management of NDI are very challenging and require an integrated, multidisciplinary approach. Here, we present 36 recommendations for diagnosis, treatment and follow-up in both children and adults, as well as emergency management, genetic counselling and family planning, for patients with NDI. These recommendations were formulated and graded by an international group of experts in NDI from paediatric and adult nephrology, urology and clinical genetics from the European Rare Kidney Disease Reference Network and the European Society of Paediatric Nephrology, as well as patient advocates, and were validated by a voting panel in a Delphi process. The goal of these recommendations is to provide guidance to health care professionals who care for patients with NDI and to patients and their families. In addition, we emphasize the need for further research on different aspects of this potentially life-threatening disorder to support the development of evidence-based guidelines in the future.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":null,"pages":null},"PeriodicalIF":41.5,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142452645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Treating AAV by targeting T cell responses 通过靶向 T 细胞反应治疗 AAV

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-22 DOI: 10.1038/s41581-024-00904-3

Monica Wang

引用次数: 0

Bacteria caught in neutrophil and UMOD traps in urine 尿液中的中性粒细胞和 UMOD 捕集器捕获的细菌

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-22 DOI: 10.1038/s41581-024-00903-4

Monica Wang

引用次数: 0

A guide to studying 3D genome structure and dynamics in the kidney 肾脏三维基因组结构和动态研究指南

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-15 DOI: 10.1038/s41581-024-00894-2

Brian J. Beliveau, Shreeram Akilesh

{"title":"A guide to studying 3D genome structure and dynamics in the kidney","authors":"Brian J. Beliveau, Shreeram Akilesh","doi":"10.1038/s41581-024-00894-2","DOIUrl":"https://doi.org/10.1038/s41581-024-00894-2","url":null,"abstract":"The human genome is tightly packed into the 3D environment of the cell nucleus. Rapidly evolving and sophisticated methods of mapping 3D genome architecture have shed light on fundamental principles of genome organization and gene regulation. The genome is physically organized on different scales, from individual genes to entire chromosomes. Nuclear landmarks such as the nuclear envelope and nucleoli have important roles in compartmentalizing the genome within the nucleus. Genome activity (for example, gene transcription) is also functionally partitioned within this 3D organization. Rather than being static, the 3D organization of the genome is tightly regulated over various time scales. These dynamic changes in genome structure over time represent the fourth dimension of the genome. Innovative methods have been used to map the dynamic regulation of genome structure during important cellular processes including organism development, responses to stimuli, cell division and senescence. Furthermore, disruptions to the 4D genome have been linked to various diseases, including of the kidney. As tools and approaches to studying the 4D genome become more readily available, future studies that apply these methods to study kidney biology will provide insights into kidney function in health and disease.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":null,"pages":null},"PeriodicalIF":41.5,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142435976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Multidisciplinary collaboration to improve neonatal kidney health 多学科合作改善新生儿肾脏健康

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-03 DOI: 10.1038/s41581-024-00895-1

Jennifer R. Charlton, David T. Selewski, Matthew W. Harer, David J. Askenazi, Michelle C. Starr, Ronnie Guillet

引用次数: 0

Renal nerves in physiology, pathophysiology and interoception 生理、病理生理学和互感中的肾神经

IF 41.5 1区医学

Nature Reviews Nephrology Pub Date : 2024-10-03 DOI: 10.1038/s41581-024-00893-3

Louise C. Evans, Alex Dayton, John W. Osborn

{"title":"Renal nerves in physiology, pathophysiology and interoception","authors":"Louise C. Evans, Alex Dayton, John W. Osborn","doi":"10.1038/s41581-024-00893-3","DOIUrl":"https://doi.org/10.1038/s41581-024-00893-3","url":null,"abstract":"Sympathetic efferent renal nerves have key roles in the regulation of kidney function and blood pressure. Increased renal sympathetic nerve activity is thought to contribute to hypertension by promoting renal sodium retention, renin release and renal vasoconstriction. This hypothesis led to the development of catheter-based renal denervation (RDN) for the treatment of hypertension. Two RDN devices that ablate both efferent and afferent renal nerves received FDA approval for this indication in 2023. However, in animal models, selective ablation of afferent renal nerves resulted in comparable anti-hypertensive effects to ablation of efferent and afferent renal nerves and was associated with a reduction in sympathetic nerve activity. Selective afferent RDN also improved kidney function in a chronic kidney disease model. Notably, the beneficial effects of RDN extend beyond hypertension and chronic kidney disease to other clinical conditions that are associated with elevated sympathetic nerve activity, including heart failure and arrhythmia. These findings suggest that the kidney is an interoceptive organ, as increased renal sensory nerve activity modulates sympathetic activity to other organs. Future studies are needed to translate this knowledge into novel therapies for the treatment of hypertension and other cardiorenal diseases.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":null,"pages":null},"PeriodicalIF":41.5,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142368964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

New AAV vector targets glomerular endothelial cells 以肾小球内皮细胞为靶标的新型 AAV 向量

IF 28.6 1区医学

Nature Reviews Nephrology Pub Date : 2024-09-27 DOI: 10.1038/s41581-024-00898-y

Monica Wang

引用次数: 0